Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COMMD9_chr11_36267292_36294424	36270137	T T	TAGAGAGA others(39): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 NA19064.hp2 HG01978.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0014 a0001c0001t0003g0008 a0001c0001t0003g0014	2	448	0.0045	46	c.44 others(57): Show c.4494_*4495insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2154		chr11	TogoVar
COPG1_chr3_129244606_129282773	129247224	G G	GTATATGT others(39): Show GTATATGTATATATATGTGTGTGTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0047 a0002c0005t0002g0047	1	326	0.0031	46	c.-24 others(57): Show c.-2486_-2485insTATATGTATATATATGTGTGTGTATATATATATA TATATATATATA	COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding		2381		chr3	TogoVar
COPG1_chr3_129244606_129282773	129247226	G G	GTATATGT others(39): Show GTATATGTATATATATGTGTGTGTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0010 a0002c0005t0002g0010	1	326	0.0031	46	c.-24 others(57): Show c.-2484_-2483insTATATGTATATATATGTGTGTGTATATATATATA TATATATATATA	COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding		2379		chr3	TogoVar
COQ8A_chr1_226935294_226992544	226955688	C C	CCACTCCC others(39): Show CCACTCCCTGGTTCACACTCTCCCTGGCTCTCACTCTCCCTGGTTCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02965.hp2 HG02970.hp2 HG02145.hp1 HG02965.hp2 HG02970.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0358 a0002c0004t0008g0359 a0002c0004t0008g0360 a0002c0004t0008g0358 a0002c0004t0008g0359 a0002c0004t0008g0360	3	412	0.0073	46	c.-9- others(61): Show c.-9-5684_-9-5683insCCTGGTTCACACTCTCCCTGGCTCTCACTC TCCCTGGTTCACACTC	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8A_chr1_226935294_226992544	226956944	T T	TCTCCCTG others(39): Show TCTCCCTGGTTCACACTCTCCCTGGCTGCCACTCTCCCTGGCTGCCA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0227 a0001c0002t0003g0227	1	412	0.0024	46	c.-9- others(61): Show c.-9-4399_-9-4354dupTCCCTGGCTGCCACTCCCTGGTTCACACTC TCCCTGGCTGCCACTC	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CPA6_chr8_67417038_67751360	67560160	G G	GATATATA others(39): Show GATATATATATACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	144	0.0069	46	c.193 others(65): Show c.193-42114_193-42113insATATATATATATATATATATATATAT ATATATATGTATATATATAT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00733.hp2 others(13): Show HG00558.hp1 HG00558.hp2 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp1 HG01192.hp2 HG01243.hp2 HG01993.hp1 HG02109.hp2 HG02132.hp2 HG03654.hp1 HG03942.hp2 NA18943.hp1 NA18950.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0113 a0001c0001t0001g0116 others(13): Show a0001c0001t0001g0031 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0199 a0001c0001t0001g0220 a0001c0001t0001g0229 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0307	16	332	0.0482	46	c.308 others(63): Show c.308-3203_308-3202insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAAAGAAAGAAAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPLX2_chr5_175866578_175889021	175871428	A A	AGACAGAG others(39): Show AGACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	378	0.0027	46	c.-36 others(55): Show c.-366_-365insGACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		149		chr5	TogoVar
CPNE7_chr16_89570758_89602246	89580193	G G	GTCACACG others(39): Show GTCACACGGAACATCCCGTCACCCGCTGACACGGAACATCTCCCCCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02027.hp1 NA19080.hp1 HG00597.hp1 HG02027.hp1 NA19080.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0003 a0002c0003t0002 a0002c0003t0003	a0002c0003t0002g0153 a0002c0003t0003g0152 a0002c0003t0003g0171 a0002c0003t0002g0153 a0002c0003t0003g0152 a0002c0003t0003g0171	3	348	0.0086	46	c.357 others(63): Show c.357+2489_357+2534dupGTCACCCGCTGACACGGAACATCTCCCC CATCACACGGAACATCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPO_chr2_206934518_206974474	206943667	A A	AGATAGAT others(39): Show AGATAGATGATAGATAGATAGATAGATAGATAGATAGATAGATGATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG04204.hp1 others(13): Show HG00280.hp1 HG00558.hp1 HG04204.hp1 NA18944.hp2 NA18951.hp2 NA18962.hp1 NA18982.hp2 NA18991.hp2 NA19001.hp1 NA19054.hp1 NA19057.hp2 NA19068.hp1 NA19075.hp1 NA19078.hp1 NA19080.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0076 others(7): Show a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0088 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094	16	422	0.0379	46	c.68+ others(61): Show c.68+4042_68+4043insGATGGATAGATGATAGATAGATAGATAGAT AGATAGATAGATAGAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPO_chr2_206934518_206974474	206943674	T T	TGATAGAT others(39): Show TGATAGATAGATAGATAGATAGATAGATAGATGATGGATAGATGATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18951.hp1 NA19070.hp1 HG02056.hp1 NA18951.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0059 a0002c0002t0001g0083 a0002c0002t0001g0084	3	422	0.0071	46	c.68+ others(61): Show c.68+4038_68+4039insGATGGATAGATGATAGATAGATAGATAGAT AGATAGATAGATAGAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPO_chr2_206934518_206974474	206943732	A A	AGATAGAT others(39): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATGATGGATAGAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01517.hp1 HG00642.hp1 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0250 a0002c0002t0001g0258 a0002c0002t0001g0250 a0002c0002t0001g0258	2	422	0.0047	46	c.68+ others(61): Show c.68+4100_68+4101insGATGGATAGATGATAGATAGATAGATAGAT AGATAGATAGATAGAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPO_chr2_206934518_206974474	206943740	A A	AGATAGAT others(39): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATGATGGATAGAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0165 a0002c0002t0001g0165	1	422	0.0024	46	c.68+ others(61): Show c.68+4108_68+4109insGATGGATAGATGATAGATAGATAGATAGAT AGATAGATAGATAGAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(39): Show TATATATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	290	0.0035	46	c.289 others(65): Show c.289+14928_289+14929insCTCTCTCTCTCTCTCTCTCTATATAT ATATATATATATATATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPS1_chr2_210551599_210684107	210597829	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0007 a0002c0013t0007	a0002c0013t0007g0073 a0002c0013t0007g0073	1	340	0.0029	46	c.136 others(65): Show c.1360-1540_1360-1539insTATATATATATATATATATATATATA TATATATATATATATACATA	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPT1C_chr19_49686116_49718731	49702025	T T	TAAATATA others(39): Show TAAATATATATTTATTTATAAATAAATATATTTATTTATAAATTATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	350	0.0029	46	c.693 others(61): Show c.693+391_693+392insAAATATATATTTATTTATAAATAAATATAT TTATTTATAAATTATA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19			chr19	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0314 a0005c0005t0002g0314	1	360	0.0028	46	c.689 others(63): Show c.6890-563_6890-562insATATATATATATATATATATATATATAT ATATATATATGTGTGTGT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRACDL_chr2_98788846_98941225	98795040	A A	AATATATA others(39): Show AATATATAAAAATTTATATATATATATATATATAAAAATTTATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp1 HG02630.hp1 HG02896.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0029 a0005c0005t0001g0031 a0005c0005t0001g0029 a0005c0005t0001g0031	2	316	0.0063	46	c.275 others(63): Show c.2750-370_2750-369insATATATAAATTTTTATATATATATATAT ATATAAATTTTTATATAT	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	9/9			chr2	TogoVar
CRACR2A_chr12_3610328_3758109	3643863	A A	ATATATAA others(39): Show ATATATAAATATATATAATATATATTATATATTTATATTATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	320	0.0031	46	c.116 others(63): Show c.1164+731_1164+732insATATATATAATATAAATATATAATATAT ATTATATATATTTATATA	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	12/19			chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3745825	T T	TAACATAA others(39): Show TAACATAACATAACATAACATAACATAACATAACATAACATAACATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0125 a0009c0012t0001g0125	1	320	0.0031	46	c.-38 others(65): Show c.-387+7189_-387+7190insTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19			chr12	TogoVar
CREB5_chr7_28407518_28830894	28486670	T T	TTAAATAT others(39): Show TTAAATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	198	0.0051	46	c.4-1 others(59): Show c.4-1503_4-1502insAATATATATATATATATATATATATATATATA TATATATATATATA	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28552004	C C	CTCTTTCT others(39): Show CTCTTTCTCTCTTTTCTCTCTCTCTTTCTCTCTTTTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02257.hp2 others(6): Show HG01167.hp2 HG01169.hp1 HG02257.hp2 HG02486.hp1 HG02809.hp2 HG02976.hp1 HG03139.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0015 a0001c0001t0032 a0001c0001t0036	a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0005g0122 others(6): Show a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0005g0122 a0001c0001t0005g0163 a0001c0001t0012g0141 a0001c0001t0015g0162 a0001c0001t0015g0190 a0001c0001t0032g0180 a0001c0001t0036g0179	9	198	0.0455	46	c.292 others(65): Show c.292-18358_292-18357insTTCTCTCTTTTCTCTCTCTCTTTCTC TCTTTTCTCTCTCTCTTTCT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560887	C C	CGCGTGTG others(39): Show CGCGTGTGCGCGCGTGCGTGTGTGCGTGTGTGCGTGCGTGCGTGTGT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	198	0.0051	46	c.292 others(63): Show c.292-9477_292-9476insCGTGTGCGCGCGTGCGTGTGTGCGTGTG TGCGTGCGTGCGTGTGTG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560887	C C	CGCGTGTG others(39): Show CGCGTGTGTGCGCGTGCGTGTGTGCGTGTGTGCGTGCGTGCGTGCGT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0024 a0001c0001t0019g0024	1	198	0.0051	46	c.292 others(63): Show c.292-9477_292-9476insCGTGTGTGCGCGTGCGTGTGTGCGTGTG TGCGTGCGTGCGTGCGTG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREBBP_chr16_3720054_3885713	3799224	A A	AAATGTTT others(39): Show AAATGTTTCAGAATTGACTGTGGTGATGGTTACACAATATACTAAAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0176 a0001c0001t0010g0176	1	286	0.0035	46	c.976 others(63): Show c.976-5644_976-5599dupATTTAGTATATTGTGTAACCATCACCAC AGTCAATTCTGAAACATT	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	3/30			chr16	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(39): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03490.hp2 NA20905.hp1 HG01192.hp2 HG03490.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0019 a0001c0001t0001g0099 a0001c0001t0008g0019 a0001c0001t0001g0019 a0001c0001t0001g0099 a0001c0001t0008g0019	3	324	0.0093	46	c.101 others(63): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCCACC others(39): Show CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02622.hp1 HG00140.hp2 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0002 a0002c0002t0003 a0001c0003t0002 a0002c0002t0003	a0001c0003t0002g0210 a0002c0002t0003g0151 a0001c0003t0002g0210 a0002c0002t0003g0151	2	324	0.0062	46	c.101 others(63): Show c.1010-538_1010-537insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRKL_chr22_20912407_20958747	20916628	A A	AAAAGAAA others(39): Show AAAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0062 a0001c0001t0007g0062	1	370	0.0027	46	c.-13 others(57): Show c.-1307_-1306insAAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAG	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		778		chr22	TogoVar
CROCC2_chr2_240901336_240998311	240964954	T T	TTCCGGCA others(39): Show TTCCGGCATGCACAGCAGCACACGGAAGTATCCTACATGCAACACCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0047 a0047	a0047c0090 a0047c0090	a0047c0090t0001 a0047c0090t0001	a0047c0090t0001g0112 a0047c0090t0001g0112	1	350	0.0029	46	c.346 others(63): Show c.3465+334_3465+335insCATGCACAGCAGCACACGGAAGTATCCT ACATGCAACACCCTCCGG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	22/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAGATAGATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0011 a0004c0006t0011	a0004c0006t0011g0290 a0004c0006t0011g0290	1	290	0.0035	46	c.684 others(65): Show c.684+33309_684+33310insATATATCTATCTATATATATATATAT ATATTTTTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATAGATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0099 a0001c0001t0018g0099	1	290	0.0035	46	c.684 others(65): Show c.684+33309_684+33310insATATATCTATATATATATATATATAT ATATTTTTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAATATATATATATATATATATAGATAGATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01496.hp1 HG03579.hp1 HG01069.hp1 HG01496.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0087 a0001c0001t0089 a0002c0002t0036 a0001c0001t0087 a0001c0001t0089 a0002c0002t0036	a0001c0001t0087g0071 a0001c0001t0089g0132 a0002c0002t0036g0208 a0001c0001t0087g0071 a0001c0001t0089g0132 a0002c0002t0036g0208	3	290	0.0103	46	c.684 others(65): Show c.684+33309_684+33310insATATATCTATCTATATATATATATAT ATATATTTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATAGATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18986.hp1 HG01175.hp2 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0021 a0002c0002t0004 a0002c0002t0021	a0002c0002t0004g0218 a0002c0002t0021g0255 a0002c0002t0004g0218 a0002c0002t0021g0255	2	290	0.0069	46	c.684 others(65): Show c.684+33309_684+33310insATATATCTATATATATATATATATAT ATATATTTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAATATATATATATATATATATATATATAGATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02055.hp1 HG03688.hp2 HG00597.hp1 HG02055.hp1 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0045 a0002c0002t0082 a0002c0002t0004 a0002c0002t0045 a0002c0002t0082	a0002c0002t0004g0245 a0002c0002t0045g0006 a0002c0002t0082g0250 a0002c0002t0004g0245 a0002c0002t0045g0006 a0002c0002t0082g0250	3	290	0.0103	46	c.684 others(65): Show c.684+33309_684+33310insATATATCTATATATATATATATATAT ATATATATTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9			chr7	TogoVar
CRTAP_chr3_33109014_33152773	33111545	T T	TGGGGGGG others(39): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0253 a0001c0002t0001g0253	1	408	0.0025	46	c.-25 others(57): Show c.-2533_-2532insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGG	CRTAP	ENSG00000170275.15	transcript	ENST00000320954.11	protein_coding		2468		chr3	TogoVar
CRYBB2_chr22_25214639_25236869	25218779	G G	GAGAAGAA others(39): Show GAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	464	0.0022	46	c.-91 others(55): Show c.-914_-913insAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		859		chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218779	G G	GAGAGAGA others(39): Show GAGAGAGAGAGAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	464	0.0022	46	c.-91 others(55): Show c.-914_-913insAGAGAGAGAGAGAGAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		859		chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106361971	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02602.hp1 HG02523.hp2 HG02602.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0002 a0001c0001t0001 a0004c0004t0002	a0001c0001t0001g0113 a0004c0004t0002g0114 a0001c0001t0001g0113 a0004c0004t0002g0114	2	272	0.0074	46	c.173 others(61): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CSH1_chr17_63889918_63901574	63898148	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	46	c.-16 others(57): Show c.-1638_-1637insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1575		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898152	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	46	c.-16 others(57): Show c.-1642_-1641insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1579		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898156	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02083.hp1 NA19007.hp2 HG01074.hp2 HG02083.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	428	0.0070	46	c.-16 others(57): Show c.-1646_-1645insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1583		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898160	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0004 a0004c0004t0001g0004	1	428	0.0023	46	c.-16 others(57): Show c.-1650_-1649insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1587		chr17	TogoVar
CSMD1_chr8_2930361_4999914	3795393	G G	GATATCTA others(39): Show GATATCTATCATAGATATAGATATATATCTATCATAGATATAGATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0089 a0002c0089	a0002c0089t0001 a0002c0089t0001	a0002c0089t0001g0037 a0002c0089t0001g0037	1	126	0.0079	46	c.819 others(65): Show c.819-41397_819-41352dupATATCTATATCTATGATAGATATATA TCTATATCTATGATAGATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3796024	T T	TATAGATA others(39): Show TATAGATATAGATATATATCTATCATAGATATAGATATATATCTATC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02683.hp2 HG03017.hp1 others(3): Show HG02451.hp2 HG02683.hp2 HG03017.hp1 HG03139.hp2 HG04204.hp2 NA18995.hp2	a0001 a0002 a0029 others(1): Show a0001 a0002 a0029 a0039	a0001c0001 a0001c0002 a0001c0033 others(3): Show a0001c0001 a0001c0002 a0001c0033 a0002c0037 a0029c0028 a0039c0009	a0001c0001t0002 a0001c0002t0061 a0001c0033t0003 others(3): Show a0001c0001t0002 a0001c0002t0061 a0001c0033t0003 a0002c0037t0009 a0029c0028t0024 a0039c0009t0001	a0001c0001t0002g0102 a0001c0002t0061g0069 a0001c0033t0003g0059 others(3): Show a0001c0001t0002g0102 a0001c0002t0061g0069 a0001c0033t0003g0059 a0002c0037t0009g0046 a0029c0028t0024g0040 a0039c0009t0001g0002	6	126	0.0476	46	c.819 others(65): Show c.819-42028_819-41983dupGATAGATATATATCTATATCTATGAT AGATATATATCTATATCTAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3838478	A A	ATAGCCTA others(39): Show ATAGCCTATAGATATATAGCCTAGGCTATATATAATATAATATAGCC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0009 a0002c0037t0009	a0002c0037t0009g0046 a0002c0037t0009g0046	1	126	0.0079	46	c.819 others(65): Show c.819-84482_819-84437dupGGCTATATTATATTATATATAGCCTA GGCTATATATCTATAGGCTA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542637	T T	TATATACA others(39): Show TATATACATGTATGTATATATATATATATGTGTATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0385 a0001c0001t0002g0385	1	390	0.0026	46	c.230 others(63): Show c.230+7437_230+7438insGTATATATATATATACACATATATATAT ATATACATACATGTATAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK2A2_chr16_58152907_58203106	58171958	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	400	0.0025	46	c.429 others(63): Show c.429+2492_429+2493insATATATATATATATATATATATATATAT ATATATATATATATATAT	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSPP1_chr8_67059392_67201614	67160026	C C	CTTTTCTT others(39): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp2 HG02717.hp1 HG01106.hp1 HG01106.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0083 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0083	3	158	0.0190	46	c.253 others(63): Show c.2538+898_2538+899insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTTCTTTT	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CST8_chr20_23486117_23501010	23490304	A A	ATATATAT others(39): Show ATATATATAAATTATATATAAAATATATATAATTTATATATATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00558.hp1 others(48): Show HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG01074.hp2 HG01175.hp2 HG01261.hp1 HG01358.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02293.hp1 HG02602.hp2 HG02738.hp1 HG03471.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18952.hp1 NA18957.hp2 NA18959.hp2 NA18963.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18980.hp1 NA18982.hp2 NA18985.hp1 NA18988.hp2 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19070.hp1 NA19079.hp2 NA19084.hp2 NA19088.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0036	51	440	0.1159	46	c.-11 others(57): Show c.-1182_-1181insTATATATAAATTATATATAAAATATATATAATTT ATATATATAAAT	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		812		chr20	TogoVar
CSTPP1_chr11_46931761_47167247	47013131	G G	GCATATAT others(39): Show GCATATATAACCATATGTAGTTATATATAAATGGTTATTATATATAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp1 HG02895.hp1 others(6): Show HG02647.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0177 others(6): Show a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0188	9	224	0.0402	46	c.149 others(65): Show c.149+25859_149+25904dupTATATATAACATATATAACCATATGT AGTTATATATAAATGGTTAT	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar

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